Detalhe da pesquisa
1.
DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification.
Haematologica
; 109(1): 231-244, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37439377
2.
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835439
3.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
4.
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Int J Mol Sci
; 22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071322
5.
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Hum Mutat
; 41(5): 983-997, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957178
6.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
7.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806792
8.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Int J Mol Sci
; 19(4)2018 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29642415
9.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486927
10.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Hum Genet
; 134(6): 613-26, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25805166
11.
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Am J Med Genet A
; 167A(1): 221-30, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339188
12.
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
BMC Med Genet
; 15: 52, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886451
13.
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.
Hum Reprod
; 29(2): 368-79, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24324027
14.
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Front Genet
; 15: 1358334, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544803
15.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
BMC Med Genet
; 14: 41, 2013 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23551878
16.
Y chromosome loss in male patients with primary biliary cirrhosis.
J Autoimmun
; 41: 87-91, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23375847
17.
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Am J Med Genet A
; 161A(3): 611-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23341071
18.
Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis.
J Autoimmun
; 38(2-3): J193-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22196921
19.
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Genes (Basel)
; 13(2)2022 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205380
20.
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Eur J Hum Genet
; 30(11): 1233-1238, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821519